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Gene: Dgat2 MGI:1915050

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

diacylglycerol O-acyltransferase 2

Synonyms:

0610010B06Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Dgat2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Dgat2 (0 diseases)
Human diseases predicted to be associated with Dgat2 (1112 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dgat2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ulerythema Ophryogenesis	Miscarriage, Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, C...	ORPHA:3406
Keratoderma Hereditarium Mutilans With Ichthyosis	Scaling skin on fingertip, Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis,...	ORPHA:79395
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ichthyosis, Er...	OMIM:612281
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Parakeratosis, Portal hypertension, Pruritus, Splenomegaly, Jaundice, Cholestasis, ...	OMIM:607626
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Ichthyosis, Annular Epidermolytic, 1	Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform eryth...	OMIM:607602
Lamellar Ichthyosis	Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Ichthyosis, Erythroderma, Dry skin	ORPHA:313
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos...	ORPHA:454
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Edema, Pruritus, Splenomegaly, Erythema, Skin ulcer, Hyperkerato...	ORPHA:2584
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Thickened skin, Lack of skin elasticity, Weight loss, Palmoplantar keratoderma, Type I ...	ORPHA:1979
Congenital Disorder Of Glycosylation, Type Im	Death in infancy, Inflammatory abnormality of the skin, Increased circulating free fatty acid lev...	OMIM:610768
Erythrokeratodermia Variabilis	Diabetes mellitus, Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Weight loss, Hyperker...	ORPHA:317
Huriez Syndrome	Dry skin, Lack of skin elasticity, Sclerodactyly, Palmoplantar keratoderma	ORPHA:384
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin res...	OMIM:615381
Ichthyosis, Congenital, Autosomal Recessive 8	Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Acral Self-Healing Collodion Baby	Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal...	ORPHA:281127
Peeling Skin Syndrome 4	Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthokeratosis	OMIM:607936
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr...	OMIM:604777
Palmoplantar Keratoderma And Congenital Alopecia 2	Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly	OMIM:212360
Diabetes Mellitus, Transient Neonatal, 1	Dehydration	OMIM:601410
Erythrokeratodermia Variabilis Et Progressiva 3	Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:617525
Diarrhea 4, Malabsorptive, Congenital	Dehydration	OMIM:610370
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Atop...	ORPHA:530838
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta...	ORPHA:324575
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Eczema, Aggressive behavior, Hyperphenylalaninemia...	OMIM:261600
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Aquagenic Palmoplantar Keratoderma	Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic...	ORPHA:498359
Chronic Hiccup	Dehydration	ORPHA:396
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Ichthyosis, Pa...	OMIM:615508
Ichthyosis Vulgaris	Eczematoid dermatitis, Dry skin, Ichthyosis	OMIM:146700
Platelet-Activating Factor Acetylhydrolase Deficiency	Increased level of platelet-activating factor	OMIM:614278
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Eczema, Dry skin, Cutis laxa, Hyperkeratosis, Ichthyosis, Dysphagi...	OMIM:612379
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Dehydration, Dysphagia, Intrauterine g...	OMIM:618958
Reticular Dysgenesis	Fever, Skin rash, Skin ulcer, Weight loss, Dehydration, Failure to thrive	ORPHA:33355
Combined Malonic And Methylmalonic Aciduria	Dehydration	OMIM:614265
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ...	OMIM:615023
Acrokeratoelastoidosis Of Costa	Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis	ORPHA:38
Dermatitis, Atopic	Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial erythema, Pallor, Ichthyos...	OMIM:603165
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery...	ORPHA:64745
Recessive X-Linked Ichthyosis	Hyperkeratosis, Dry skin, Attention deficit hyperactivity disorder, Ichthyosis	ORPHA:461
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Palmoplantar keratoderma, Lack of skin elasticity	ORPHA:1366
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Dehydration	OMIM:251850
Costello Syndrome	Failure to thrive in infancy, Redundant skin, Polyhydramnios, Lack of skin elasticity, Hyperkerat...	ORPHA:3071
Stiff Skin Syndrome	Type II diabetes mellitus, Abnormal circulating lipid concentration, Lack of skin elasticity, Thi...	ORPHA:2833
Congenital Lethal Erythroderma	Death in infancy, Congenital exfoliative erythroderma, Dry skin, Hypoalbuminemia, Ichthyosis, Fai...	ORPHA:1954
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome	Dry skin, Ichthyosis	ORPHA:2271
Combined Malonic And Methylmalonic Acidemia	Elevated hepatic transaminase, Dicarboxylic acidemia, Methylmalonic acidemia, Hypoglycemia, Dehyd...	ORPHA:289504
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Dehydration, Decreased ci...	ORPHA:79159
Central Diabetes Insipidus	Fever, Hyponatremia, Anorexia, Dehydration, Weight loss, Polydipsia, Failure to thrive	ORPHA:178029
Ichthyosis, Congenital, Autosomal Recessive 13	Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:617574
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por...	ORPHA:369
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Death in infancy, Elevated circul...	OMIM:614576
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Type II diabetes mellitus	ORPHA:2297
Sjögren-Larsson Syndrome	Hyperkeratosis, Erythema, Dry skin, Ichthyosis	ORPHA:816
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Overweight, Abnormal elasticity of skin, Follicular hyperkeratosis, Dry skin, Mildly elevated cre...	ORPHA:486815
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Antisynthetase Syndrome	Fever, Skin rash, Elevated circulating creatine kinase concentration, Edema, Pruritus, Xerostomia...	ORPHA:81
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hy...	OMIM:245400
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, A...	OMIM:262190
Beta-Ketothiolase Deficiency	Fever, Hepatomegaly, Hypoglycemia, Edema, Anorexia, Dehydration, Weight loss, Hyperammonemia, Agi...	ORPHA:134
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Follicular hyperk...	OMIM:257980
Harlequin Ichthyosis	Malignant hyperthermia, Dehydration, Hyperkeratosis, Self-injurious behavior, Congenital ichthyos...	ORPHA:457
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Classic Phenylketonuria	Eczema, Lack of skin elasticity, Self-injurious behavior, Attention deficit hyperactivity disorde...	ORPHA:79254
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Polyhydramnios, Large for gestational age, Obesity, Truncal obesity, Fasting hypogl...	OMIM:240900
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Increased C-peptide level, Hypogl...	ORPHA:276556
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Dehydration	OMIM:602199
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Increased C-peptide level, Hyperinsulinemia, Hypoglycemi...	ORPHA:276575
Amyloidosis, Primary Localized Cutaneous, 3	Pruritus, Dry skin	OMIM:617920
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Increased C-peptide level, Hyperinsul...	ORPHA:276580
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Elevated 8-dehydrocholesterol, Erythema, Elevated 8(9)-cholestenol, Hyperkeratosis...	OMIM:308050
Inflammatory Skin And Bowel Disease, Neonatal, 2	Long eyelashes, Polyhydramnios, Dehydration	OMIM:616069
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Hyperkeratosis, Ichthyosis, Scaling skin, Congenital nonbullous ichthyosiform erythrode...	OMIM:614457
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Increased circulating corticosterone level, Hyperkalemia, Dehydration, Increased ci...	OMIM:610600
Werner Syndrome	Miscarriage, Insulin resistance, Lack of skin elasticity, Skin ulcer, Hyperkeratosis, Type II dia...	ORPHA:902
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	OMIM:205400
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis	OMIM:101900
Familial Cold Urticaria	Fever, Pruritus, Erythema, Dehydration, Polydipsia	ORPHA:47045
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:212140
Short Stature Due To Ghsr Deficiency	Hypoglycemia, Abnormality of body weight, Decreased body weight	ORPHA:314811
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Hyperammonemia, Attention deficit hyperact...	OMIM:620211
Hemochromatosis, Neonatal	Hypoglycemia, Nonimmune hydrops fetalis, Increased circulating ferritin concentration, Cholestasi...	OMIM:231100
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa	OMIM:617337
Ledderhose Disease	Lack of skin elasticity	ORPHA:199251
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism...	ORPHA:171876
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:232400
Squalene Synthase Deficiency	Failure to thrive in infancy, Increased circulating farnesol concentration, Decreased LDL cholest...	OMIM:618156
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest...	ORPHA:26793
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Failure to thrive, Elevated circulating C-reactive protein concentration, Splenomeg...	OMIM:617388
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Fever, ...	ORPHA:20
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Sézary Syndrome	Hepatomegaly, Edema, Pruritus, Splenomegaly, Palmoplantar keratoderma, Erythroderma, Dry skin	ORPHA:3162
Mantle Cell Lymphoma	Fever, Splenomegaly, Anorexia, Weight loss	ORPHA:52416
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Obesity, Type II diabetes mellitus, Acanthosis nigricans, Dry skin	ORPHA:3085
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive, Hypoglycemia	ORPHA:67046
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Congenital Disorder Of Glycosylation, Type If	Death in infancy, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive	OMIM:609180
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu...	OMIM:617571
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Dehydration, Elevated seru...	ORPHA:556030
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Hyperlipidemia, Lack of skin elasticity	ORPHA:90153
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Secondary Short Bowel Syndrome	Low plasma citrulline, Abnormal blood ion concentration, Dehydration, Weight loss, Cholestasis, S...	ORPHA:95427
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Failure to thrive, Hyperammonemia, Dehydration	ORPHA:28
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Cutis laxa, Generalized ichthyosis, Scaling skin, Dry skin, Generalized hyperkeratosis	ORPHA:2269
Omenn Syndrome	Fever, Hepatomegaly, Edema, Pruritus, Splenomegaly, Thickened skin, Dry skin, Erythroderma, Failu...	ORPHA:39041
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Failure to thrive	OMIM:264350
Schopf-Schulz-Passarge Syndrome	Hyperkeratosis, Dry skin, Palmoplantar keratoderma	OMIM:224750
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anorexia, Splenomegaly, Dehydration, Hyperammonemia, Failure to thrive, Pancreatitis	ORPHA:79312
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplan...	ORPHA:312
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension...	OMIM:251880
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge...	OMIM:557000
Cutis Laxa, Autosomal Recessive, Type Iib	Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Intrauterine growth retardation...	OMIM:612940
Late-Onset Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Anorexia, Hyperk...	ORPHA:199299
Leri Pleonosteosis	Thickened skin, Lack of skin elasticity	ORPHA:2900
Bachmann-Bupp Syndrome	Hypoglycemia, Polyhydramnios, Aggressive behavior, Large for gestational age, Attention deficit h...	OMIM:619075
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Pruritus, Hyperkeratosis, Failure to thrive, Palmoplantar hyperkeratosis	ORPHA:89838
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker...	OMIM:617526
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Weight loss, Palmoplantar keratoderma, Dysphagia, Ascites	ORPHA:2198
Tooth Agenesis, Selective, 8	Dry skin	OMIM:617073
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Anonychia With Flexural Pigmentation	Dry skin	OMIM:106750
Primary Erythromelalgia	Pruritus, Erythema, Hypothermia	ORPHA:90026
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Cystinosis	Fever, Portal hypertension, Dehydration, Hypokalemia, Hypophosphatemia, Type I diabetes mellitus,...	ORPHA:213
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin	ORPHA:2812
Anonychia With Flexural Pigmentation	Hyperkeratosis, Follicular hyperkeratosis	ORPHA:69125
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Intrauterine growth retardation, Hypoglycemia	OMIM:223500
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Small for gestational age,...	OMIM:208085
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level, F...	OMIM:177735
Pulmonary Blastoma	Fever, Weight loss	ORPHA:64741
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase conc...	OMIM:619048
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia, Hypothermia	OMIM:615026
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Obesity, Fasting hypoglycemia, Abnormal circulating selenium concentration	ORPHA:171706
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Thyrotropin-Releasing Hormone Deficiency	Dry skin	OMIM:275120
Craniosynostosis-Mental Retardation-Clefting Syndrome	Dry skin	OMIM:218650
Netherton Syndrome	Skin rash, Eczema, Dehydration, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Ery...	ORPHA:634
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:609016
Isolated Thyroid-Stimulating Hormone Deficiency	Hypothermia, Facial edema, Dry skin, Abnormal circulating thyroglobulin level, Attention deficit ...	ORPHA:90674
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin	OMIM:308800
Combined Oxidative Phosphorylation Deficiency 40	Death in infancy, Decreased circulating cortisol level, Hypoglycemia, Nonimmune hydrops fetalis, ...	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, An...	OMIM:619386
Spontaneous Periodic Hypothermia	Skin rash, Pallor, Hypothermia	ORPHA:29822
Night Blindness, Congenital Stationary, Type 1C	Dry skin	OMIM:613216
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:617950
Ataxia-Photosensitivity-Short Stature Syndrome	Dry skin	ORPHA:1184
Combined Oxidative Phosphorylation Deficiency 42	Death in infancy, Decreased circulating cortisol level, Hypoglycemia, Nonimmune hydrops fetalis, ...	OMIM:618839
Prolidase Deficiency	Hepatomegaly, Pruritus, Splenomegaly, Erythema, Crusting erythematous dermatitis, Skin ulcer, Hyp...	ORPHA:742
Congenital Short Bowel Syndrome	Failure to thrive, Dehydration, Steatorrhea	OMIM:615237
Cerebrooculofacioskeletal Syndrome 1	Small for gestational age, Insulin resistance, Dehydration, Death in childhood, Failure to thrive	OMIM:214150
Neonatal Hemochromatosis	Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Increase...	ORPHA:446
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Failure to thrive, Chilblains, P...	OMIM:619487
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Fever, Neonatal insulin-depen...	ORPHA:1667
Pruritic Urticarial Papules And Plaques Of Pregnancy	Striae distensae	OMIM:178995
Striae Distensae, Familial	Striae distensae	OMIM:185200
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Eczema, Dehydration, Hyperammonemia, Hyperglycinemia, Failure to thri...	OMIM:606054
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma...	ORPHA:79501
Leopard Syndrome 3	Hyperkeratosis, Dry skin, Epidermal hyperkeratosis	OMIM:613707
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin	OMIM:618527
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis	ORPHA:79503
Pili Torti-Onychodysplasia Syndrome	Dry skin, Generalized keratosis follicularis, Eczema, Palmoplantar keratoderma	ORPHA:2890
Combined Oxidative Phosphorylation Deficiency 34	Fever, Hepatomegaly, Hypoglycemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:617872
Galactokinase Deficiency	Hepatomegaly, Small for gestational age, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Incr...	ORPHA:79237
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ...	ORPHA:90280
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated...	OMIM:615158
Rhizomelic Chondrodysplasia Punctata, Type 2	Decreased circulating plasmalogen concentration, Failure to thrive	OMIM:222765
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Pruritus, Dry skin, Eczema, Palmoplantar keratoderma	OMIM:618535
Congenital Enterocyte Heparan Sulfate Deficiency	Edema, Dehydration	ORPHA:103910
Grubben-De Cock-Borghgraef Syndrome	Dry skin, Eczema	ORPHA:2101
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Anorexia, Intrahepatic ...	ORPHA:97282
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Enteric Anendocrinosis	Dehydration	ORPHA:83620
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling skin, Folli...	OMIM:616295
Trichothiodystrophy 6, Nonphotosensitive	Mild intrauterine growth retardation, Dry skin, Small for gestational age, Ichthyosis	OMIM:616943
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia, Prolonged neonatal jaundice	OMIM:262400
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr...	ORPHA:71212
Atypical Werner Syndrome	Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsuli...	ORPHA:79474
Lysosomal Acid Lipase Deficiency	Microvesicular hepatic steatosis, Dehydration, Hepatic fibrosis, Hyponatremia, Hepatosplenomegaly...	ORPHA:275761
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Ddost-Cdg	Elevated hepatic transaminase, Failure to thrive, Dry skin, Hepatic steatosis	ORPHA:300536
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Dry skin, Increased body weight	OMIM:614450
Pigmented Nodular Adrenocortical Disease, Primary, 2	Paradoxical increased cortisol secretion on dexamethasone suppression test, Truncal obesity, Incr...	OMIM:610475
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Failure to thrive, Small for gestational age, Hypoglycemia, Pericardial effusion...	OMIM:614702
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Parakeratosis, Super...	ORPHA:284426
Aicardi-Goutieres Syndrome 5	Chilblains, Dry skin, Scaling skin	OMIM:612952
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level	OMIM:620125
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Dehydration, Hyperammonemia, Hyperglycinemia,...	OMIM:251000
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Fever, Hepatomegaly, Anorexia, Pruritus, Splenomegaly, Weight loss	ORPHA:86893
Pseudoxanthoma Elasticum	Acne, Skin rash, Pruritus, Lack of skin elasticity, Excessive wrinkled skin, Hyperextensible skin...	ORPHA:758
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Dehydration, Death in adolescence, Death in childhood, Type I diabetes mellitus, Fa...	OMIM:560000
Uv-Sensitive Syndrome 3	Dry skin	OMIM:614640
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Autosomal Agammaglobulinemia	Fever, Recurrent skin infections, Skin rash, Hepatitis, Dehydration, Failure to thrive	ORPHA:33110
Acute Adrenal Insufficiency	Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Hypercalcemia, An...	ORPHA:95409
Atrophoderma Vermiculata	Hyperkeratotic papule, Erythema, Follicular hyperkeratosis, Pruritus	ORPHA:79100
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp...	ORPHA:2089
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Fever, Anorexia, Weight loss	ORPHA:2023
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Intrauterine growth retar...	ORPHA:26792
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated hepatic transaminase, Increased serum pyruvate, Small for gestational age, Hypoglycemia,...	OMIM:615160
Uv-Sensitive Syndrome 1	Dry skin	OMIM:600630
Mehmo Syndrome	Small for gestational age, Obesity, Aggressive behavior, Hypoglycemia	OMIM:300148
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Congenital Tufting Enteropathy	Dehydration, Weight loss, Cholestatic liver disease, Steatorrhea, Failure to thrive	ORPHA:92050
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt...	ORPHA:263455
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Eczema, Aggressive behavior, Pica, Obesity, Dry skin	OMIM:620191
Idiopathic Congenital Hypothyroidism	Facial edema, Neonatal hyperbilirubinemia, Hypothermia, Prolonged neonatal jaundice	ORPHA:95717
Menkes Disease	Decreased circulating ceruloplasmin concentration, Hypothermia, Cutis laxa, Death in childhood, I...	OMIM:309400
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Hypoglycemia	OMIM:610090
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Dehydration, Hyperammonemia, ...	OMIM:615453
Atelis Syndrome 1	Dry skin, Eczema, Attention deficit hyperactivity disorder	OMIM:620184
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Hypoglycemia, Decreased li...	OMIM:246900
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Dry skin, Large for gestational age, Hypothermia, Prolonged neonatal jaundice	ORPHA:226313
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Dry skin, Heat intolerance	OMIM:129490
Dermoodontodysplasia	Dry skin	OMIM:125640
Baralle-Macken Syndrome	Acanthosis nigricans, Obesity, Striae distensae	OMIM:619255
Adrenocortical Carcinoma	Diabetes mellitus, Paradoxical increased cortisol secretion on dexamethasone suppression test, In...	ORPHA:1501
Idiopathic Achalasia	Decreased prealbumin level, Dysphagia, Weight loss	ORPHA:930
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Edema, Hypoalbuminemia, Ichthyosis	OMIM:617575
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Hepatomegaly, Hyperalaninemia, Hyperglutamatemia, Hypoglycemia, Increased serum...	ORPHA:3008
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Nonimmune hydrops fetalis, Elevated circulati...	OMIM:618838
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Elevated hepatic transaminase, Insulin-resistant diabetes mellitus, Dry skin, Acanthosis nigricans	OMIM:268020
Cholestasis, Progressive Familial Intrahepatic, 5	Death in infancy, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferas...	OMIM:617049
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Polyhydramnios, Dehydration, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increa...	OMIM:214700
Hypercalcemia, Infantile, 1	Failure to thrive, Hypercalcemia, Dehydration, Weight loss	OMIM:143880
Tuberculosis	Fever, Weight loss	ORPHA:3389
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa	ORPHA:79148
Cholera	Fever, Hyponatremia, Miscarriage, Hypoglycemia, Abnormal blood ion concentration, Dehydration, Hy...	ORPHA:173
Hatipoglu Immunodeficiency Syndrome	Eczema, Thickened skin, Atopic dermatitis, Dry skin, Recurrent fever, Intrauterine growth retarda...	OMIM:620331
Meningococcal Meningitis	Fever, Skin rash, Anorexia, Hypothermia, Elevated circulating C-reactive protein concentration, P...	ORPHA:33475
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Failure to thrive, Re...	OMIM:203400
Shigellosis	Fever, Hyponatremia, Failure to thrive in infancy, Hypoglycemia, Anorexia, Peritonitis, Abnormal ...	ORPHA:810
Bazex Syndrome	Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosi...	ORPHA:166113
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Pruritus, Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis	ORPHA:79399
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Dehydration	OMIM:300200
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Chronic mucocutaneous candidiasis...	OMIM:618282
Congenital Enterovirus Infection	Fever, Skin rash, Polyhydramnios, Fetal ascites, Pericardial effusion, Hypothermia, Hepatitis, Ch...	ORPHA:292
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure	ORPHA:156
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hypoglycemia, Hyperinsulinemia	OMIM:606528
8Q22.1 Microdeletion Syndrome	Lack of skin elasticity	ORPHA:178303
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Self-injurious behavior, Dry skin, Increased body weight, Aggressive behavior	OMIM:300860
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hypothermia	OMIM:610006
Congenital Heart Defects And Ectodermal Dysplasia	Dry skin, Attention deficit hyperactivity disorder	OMIM:617364
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis, Dry skin	ORPHA:1028
Radio-Tartaglia Syndrome	Impulsivity, Aggressive behavior, Obesity, Attention deficit hyperactivity disorder, Dysphagia, D...	OMIM:619312
Laron Syndrome	Hypercholesterolemia, Hypoglycemia, Truncal obesity	ORPHA:633
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia,...	ORPHA:189427
Beta-Mercaptolactate Cysteine Disulfiduria	Dry skin, Obesity	ORPHA:1035
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Dehydration, Increased circulat...	ORPHA:90791
Familial Cervical Artery Dissection	Abnormal circulating lipid concentration, Diabetes mellitus, Striae distensae	ORPHA:36382
Neu-Laxova Syndrome	Intrauterine growth retardation, Lack of skin elasticity, Polyhydramnios, Ichthyosis	ORPHA:2671
Amyloidosis, Primary Localized Cutaneous, 1	Pruritus, Dry skin, Scaling skin	OMIM:105250
Noonan Syndrome 8	Eczema, Polyhydramnios, Large for gestational age, Patent ductus arteriosus, Hyperkeratosis, Hype...	OMIM:615355
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis	OMIM:131850
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Fever, Hepatomegaly, Hypoglycemia, Hyperammonemia, Pallor, Hyperuricemia, Death in childhood	OMIM:246450
Methylmalonyl-Coa Epimerase Deficiency	Dehydration	OMIM:251120
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Dehydration	OMIM:602722
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Dry skin, Prolonged neon...	ORPHA:95715
Ehlers-Danlos Syndrome, Hypermobility Type	Soft skin, Hyperextensible skin, Striae distensae	OMIM:130020
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Acth-Independent Macronodular Adrenal Hyperplasia	Truncal obesity, Increased circulating cortisol level, Agitation, Primary hypercortisolism, Stria...	OMIM:219080
Addison Disease	Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Hypercalcemia, An...	ORPHA:85138
Trichothiodystrophy 1, Photosensitive	Death in infancy, Small for gestational age, Hyperkeratosis, Congenital nonbullous ichthyosiform ...	OMIM:601675
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati...	OMIM:620357
Osteootohepatoenteric Syndrome	Pruritus, Microvesicular hepatic steatosis, Cholestasis, Dehydration, Weight loss, Hypokalemia, P...	OMIM:619377
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin, Aggressive behavior	OMIM:247100
Isovaleric Acidemia	Dehydration	OMIM:243500
Hsd10 Mitochondrial Disease	Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Aggressive behavior...	OMIM:300438
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula...	ORPHA:264580
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia	OMIM:261650
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as...	ORPHA:2088
Riddle Syndrome	Dry skin	OMIM:611943
Microcephalic Primordial Dwarfism, Montreal Type	Dry skin	ORPHA:2617
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration	OMIM:143860
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating branched chain am...	ORPHA:2394
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Dry ...	ORPHA:69087
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Juvenile Dermatomyositis	Fever, Calcinosis, Palpebral edema, Skin rash, Elevated circulating creatine kinase concentration...	ORPHA:93672
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Hyperammonemia, Pancreatitis, Dehydration	ORPHA:27
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypothermia, Elevated circulating acylcarnitine conc...	ORPHA:159
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Intrauterine growth retardation, Small for gestational age, Hypoglycemia	ORPHA:231147
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Splenomegaly, Skin ulcer, Weight loss, Hyp...	ORPHA:507
Lipodystrophy, Familial Partial, Type 7	Failure to thrive, Hypertriglyceridemia, Small for gestational age, Impaired glucose tolerance, F...	OMIM:606721
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Small for gestational age, Hypoglycemia, Neonatal hypoglycemia, Decreased body weight	ORPHA:231140
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Multiple pancreatic beta-cell adenomas, Decreased circulating free fat...	ORPHA:79644
Pigmented Nodular Adrenocortical Disease, Primary, 1	Paradoxical increased cortisol secretion on dexamethasone suppression test, Truncal obesity, Incr...	OMIM:610489
Coenzyme Q10 Deficiency, Primary, 5	Hyperalaninemia, Intrauterine growth retardation, Hypothermia	OMIM:614654
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Failure to thrive, Cachexia, Dry skin, Death in adolescence, Hypoa...	OMIM:610965
Den Hoed-De Boer-Voisin Syndrome	Overweight, Obesity, Dysphagia, Death in adolescence, Agitation, Decreased body weight, Intrauter...	OMIM:619229
Rhizomelic Chondrodysplasia Punctata	Dry skin, Ichthyosis	ORPHA:177
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, Redundant skin, Lymphedema, Hyperkeratosis, Excessive wrinkled skin...	ORPHA:1340
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Hypoglycemia, Decreased liver function	ORPHA:67048
Donohue Syndrome	Hyperinsulinemia, Acanthosis nigricans, Cholestasis, Hyperkeratosis, Hepatic fibrosis, Pancreatic...	OMIM:246200
Familial Thyroid Dyshormonogenesis	Hypothermia, Facial edema, Prolonged neonatal jaundice, Abnormal circulating thyroglobulin level,...	ORPHA:95716
Peeling Skin Syndrome 5	Hyperkeratosis, Scaling skin	OMIM:617115
Moynahan Syndrome	Hyperkeratosis, Cachexia	ORPHA:2574
Rabson-Mendenhall Syndrome	Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe...	ORPHA:769
Alg11-Cdg	Elevated hepatic transaminase, Failure to thrive, Dry skin, Temperature instability	ORPHA:280071
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia	OMIM:614741
Irida Syndrome	Decreased circulating copper concentration, Intrahepatic cholestasis, Hyperkeratosis, Pallor, Ich...	ORPHA:209981
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Dry skin	OMIM:600906
Noonan Syndrome 5	Dry skin, Polyhydramnios, Large for gestational age	OMIM:611553
Noonan Syndrome 13	Aggressive behavior, Lymphedema, Head-banging, Attention deficit hyperactivity disorder, Dry skin	OMIM:619087
Spinocerebellar Ataxia Type 34	Dry skin	ORPHA:1955
Glucose-Galactose Malabsorption	Fever, Hypercalcemia, Dehydration, Weight loss, Hypernatremia, Failure to thrive	ORPHA:35710
Glucose/Galactose Malabsorption	Failure to thrive, Abnormal oral glucose tolerance, Hypertonic dehydration, Glycosuria	OMIM:606824
Pearson Syndrome	Hydrops fetalis, Dehydration, Abnormality of the liver, Hypocalcemia, Hepatic steatosis, Hepatome...	ORPHA:699
Hypohidrotic Ectodermal Dysplasia	Eczema, Xerostomia, Dry skin, Hyperkeratosis, Failure to thrive	ORPHA:238468
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype...	ORPHA:2199
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Dry skin	ORPHA:248
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Hypothermia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine ...	ORPHA:230
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly...	OMIM:617093
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Hypoglycemia, Hyperammonemia, Dysphagia, Intrauterine growth retardati...	OMIM:618253
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Oral-pharyngeal dysphagia, Anorexia, Weight loss	ORPHA:100083
Hypothyroidism, Congenital, Nongoitrous, 4	Dry skin	OMIM:275100
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Splenomegaly, Dysphagia, Hepatosplenomeg...	OMIM:608013
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra...	ORPHA:79096
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyperammonemia, Hypogly...	ORPHA:6
Eosinophilic Gastroenteritis	Edema, Elevated circulating C-reactive protein concentration, Atopic dermatitis, Dysphagia, Weigh...	ORPHA:2070
Bone Marrow Failure Syndrome 4	Dry skin, Eczema	OMIM:618116
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	ORPHA:42
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Hypothermia, Bile duct proliferation, Macrovesicular...	OMIM:618329
Timothy Syndrome	Patent ductus arteriosus, Hypoglycemia, Hypocalcemia, Hypothermia	OMIM:601005
Wolman Disease	Fever, Hepatomegaly, Cachexia, Splenomegaly, Ascites, Steatorrhea, Hepatic failure	ORPHA:75233
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Attention deficit h...	ORPHA:35878
Intellectual Developmental Disorder, Autosomal Dominant 62	Striae distensae	OMIM:618793
Familial Melanoma	Neoplasm of the pancreas, Dry skin	ORPHA:618
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Dermoodontodysplasia	Dry skin	ORPHA:1660
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Cutis laxa, Decrea...	OMIM:301045
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Nonketotic hypoglycemia, Hypoglyce...	OMIM:608836
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Failure to thrive, Perianal erythema, Splenomegaly, Decreased serum zinc, Perioral ...	OMIM:201100
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Edema, Obesity, Facial erythema, Glucose intolerance, Abdominal obesi...	OMIM:219090
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Seve...	ORPHA:73272
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Failure to thrive	OMIM:614736
Acrodermatitis Enteropathica	Anorexia, Pustule, Erythema, Dry skin, Skin ulcer, Weight loss, Failure to thrive	ORPHA:37
Follicular Lymphoma	Abnormal peritoneum morphology, Fever, Lymphedema, Splenomegaly, Weight loss, Pleural effusion	ORPHA:545
Netherton Syndrome	Hypernatremic dehydration, Parakeratosis, Recurrent skin infections, Eczema, Angioedema, Congenit...	OMIM:256500
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Hyperextensible skin, Elevated circulating creatine kinase concentration, Follicular hyperkeratosis	ORPHA:300179
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Fever, Hypoglycemia, Pancreatitis, Hyperammonemia	OMIM:620137
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Abdominal obesity, Striae distensae, Aggressive behavior	OMIM:300354
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Hypothermia, Jaundice, Hydrops fetalis, ...	ORPHA:79282
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Death in infancy, Splenomegaly, Hyperprolinemia, Agitation, Hyperalanin...	OMIM:619046
Dowling-Degos Disease	Pruritus, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Acne inversa, Heat intolerance	ORPHA:79145
Endocardial Fibroelastosis	Hypoglycemia	ORPHA:2022
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper...	OMIM:620014
Distal Duplication 6P	Intrauterine growth retardation, Dry skin	ORPHA:1745
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Obesity, Pallor, Dry skin	ORPHA:91355
Xeroderma Pigmentosum Variant	Dry skin	ORPHA:90342
Lichen Planopilaris	Pruritus, Hyperkeratosis, Hepatitis, Skin ulcer	ORPHA:525
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Patent ductus arteriosus, Comedonal acne, Decreased retinol-binding protein level, Follicular hyp...	OMIM:615147
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ketotic hypoglycemia, Elevated...	ORPHA:79240
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Dehydration, Glycosuria, Hyperglycemia, Abnormal ora...	ORPHA:69076
Complex Regional Pain Syndrome	Edema of the upper limbs, Erythema, Dry skin, Pedal edema	ORPHA:83452
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode...	OMIM:606545
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated hepatic transaminase, Death in infancy, Elevated circulating dodecanoylcarnitine concent...	OMIM:619355
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Pruritus...	ORPHA:905
3-Methylglutaconic Aciduria, Type Viib	Polyhydramnios, Dehydration, Intrauterine growth retardation, Hepatic steatosis, Neonatal hypogly...	OMIM:616271
Adiposis Dolorosa	Recurrent skin infections, Dry skin, Xerostomia, Obesity	ORPHA:36397
Intestinal Dysmotility Syndrome	Failure to thrive, Polyhydramnios, Weight loss	OMIM:620045
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Anorexia, Pruritus, Jaundice, Weight loss, Acholic stools, Cholest...	ORPHA:65682
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:615821
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia, Peric...	OMIM:618775
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
19Q13.11 Microdeletion Syndrome	Intrauterine growth retardation, Failure to thrive, Dry skin, Cachexia	ORPHA:217346
Keratoderma Hereditarium Mutilans	Hyperkeratosis, Self-injurious behavior, Honeycomb palmoplantar hyperkeratosis, Ichthyosis	ORPHA:494
Weill-Marchesani Syndrome 2	Thickened skin, Patent ductus arteriosus, Lack of skin elasticity, Striae distensae	OMIM:608328
Glucocorticoid Deficiency 1	Decreased circulating cortisol level, Failure to thrive, Recurrent hypoglycemia	OMIM:202200
Huntington Disease	Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Abnormal circulating cholesterol con...	ORPHA:399
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy...	ORPHA:2298
Ramon Syndrome	Hyperkeratosis, Diabetes mellitus, Failure to thrive	ORPHA:3019
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating aspart...	OMIM:256810
Leopard Syndrome 2	Dry skin	OMIM:611554
2P21 Microdeletion Syndrome	Failure to thrive, Hypoglycemia, Hypocalcemia	ORPHA:163693
Meige Disease	Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio...	ORPHA:90186
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Ascites, Attention deficit h...	ORPHA:79239
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Dehydration, Abnormal circulati...	ORPHA:168558
Pyridoxine-Dependent Epilepsy	Restlessness, Hypoglycemia	ORPHA:3006
Thyroid Dyshormonogenesis 1	Dry skin	OMIM:274400
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Fever, Hyponatremia, Elevated circulating creatine kinase concentr...	ORPHA:94093
Bathing Suit Ichthyosis	Parakeratosis, Thickened skin, Palmoplantar hyperkeratosis, Ichthyosis, Palmoplantar scaling skin...	ORPHA:100976
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Death in infancy, Failure to thrive, Hypertyrosinemia, Hypoglycemi...	OMIM:617156
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Dehydration, Abnormal circulati...	ORPHA:289548
Septo-Optic Dysplasia Spectrum	Polydipsia, Dry skin, Obesity, Maternal diabetes	ORPHA:3157
Hypotrichosis Simplex Of The Scalp	Parakeratosis, Pruritus, Atopic dermatitis, Hyperkeratosis, Scaling skin	ORPHA:90368
Refsum Disease	Splenomegaly, Dry skin, Ichthyosis	ORPHA:773
Bartter Syndrome, Type 1, Antenatal	Fever, Hyperchloriduria, Small for gestational age, Increased serum prostaglandin E2, Polyhydramn...	OMIM:601678
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Death in infancy, Hypothermia	OMIM:614498
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Pallor, Fasting hypoglycemia, Hyperuri...	ORPHA:348
Bartter Syndrome, Type 2, Antenatal	Fever, Hyperchloriduria, Small for gestational age, Increased serum prostaglandin E2, Polyhydramn...	OMIM:241200
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Fever, Maculopapular exanthema, Skin rash, Hypoglycemia, Anorexia,...	ORPHA:99826
Arthrogryposis And Ectodermal Dysplasia	Hyperkeratosis, Diabetes mellitus, Dry skin	OMIM:601701
Classic Hodgkin Lymphoma	Fever, Hepatomegaly, Skin rash, Anorexia, Pruritus, Splenomegaly, Weight loss	ORPHA:391
Geleophysic Dysplasia 1	Hepatomegaly, Lack of skin elasticity, Thickened skin	OMIM:231050
Proteus Syndrome	Splenomegaly, Hyperkeratosis	OMIM:176920
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Fever, Polydipsia, Hyponatremia, Hypothermia, Aggressive behavior,...	ORPHA:293987
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Dehydration, Hyperglycinemia, Failure to th...	OMIM:251110
Deafness-Lymphedema-Leukemia Syndrome	Fever, Hepatomegaly, Lymphedema, Splenomegaly, Weight loss, Pallor	ORPHA:3226
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin	OMIM:602723
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Fever, Hypoglycemia, Reduced C-peptide level, Weight loss, Neopla...	ORPHA:2126
Koolen-De Vries Syndrome	Failure to thrive, Hyperactivity, Small for gestational age, Eczema, Impulsivity, Patent ductus a...	OMIM:610443
Alternating Hemiplegia Of Childhood	Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivity, Dehydration, Pallor, Dysph...	ORPHA:2131
Leprechaunism	Hepatomegaly, Thickened skin, Insulin resistance, Hyperinsulinemia, Acanthosis nigricans, Hyperke...	ORPHA:508
Uremic Pruritus	Inflammatory abnormality of the skin, Recurrent skin infections, Hypercalcemia, Renal hypophospha...	ORPHA:94059
Hydroxykynureninuria	Abnormal circulating tryptophan concentration, Dry skin, Abnormal repetitive mannerisms	ORPHA:79155
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Hyperammonemia	ORPHA:35
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypertonic dehydration, Hypernatremia, Unexplained fevers, Polydipsia, Failure to thrive	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypertonic dehydration, Hypernatremia, Unexplained fevers, Polydipsia, Failure to thrive	OMIM:304800
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,...	OMIM:619418
Agel Amyloidosis	Edema, Pruritus, Xerostomia, Cutis laxa, Blepharochalasis, Abnormal spleen morphology, Dry skin	ORPHA:85448
Developmental And Epileptic Encephalopathy 78	Hypothermia	OMIM:618557
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intrauterine growth retardation, Hypoglycemia	ORPHA:48431
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Patent ductus arteriosus, Hypothermia	OMIM:616501
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Weight loss	ORPHA:79238
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Chronic Mucocutaneous Candidiasis	Abnormality of temperature regulation, Skin rash, Pruritus, Erythema, Hepatitis, Skin ulcer, Hype...	ORPHA:1334
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Dry skin, Hypocholesterolemia	ORPHA:31150
Mitral Valve Prolapse 1	Striae distensae	OMIM:157700
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Dehydration, Periportal fibros...	OMIM:263200
Trichodysplasia-Xeroderma Syndrome	Dry skin	ORPHA:3361
Lichen Planus Pemphigoides	Skin vesicle, Hyperkeratosis, Pruritus	ORPHA:254478
Temple Syndrome	Small for gestational age, Obesity, Recurrent hypoglycemia, Type II diabetes mellitus, Polyphagia	ORPHA:254516
Pleural Mesothelioma	Hepatomegaly, Pleural effusion, Dysphagia, Weight loss	ORPHA:50251
Psoriasis 14, Pustular	Fever, Parakeratosis, Psoriasiform dermatitis, Cholangitis, Elevated circulating C-reactive prote...	OMIM:614204
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Dry skin, Scaling skin, Palmoplantar keratoderma	OMIM:618373
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content	OMIM:261750
Hypotrichosis 6	Pruritus, Erythema, Follicular hyperkeratosis	OMIM:607903
Caroli Disease	Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hepatomega...	ORPHA:53035
Primary Myelofibrosis	Fever, Hepatomegaly, Portal hypertension, Cachexia, Anorexia, Splenomegaly, Low-grade fever, Hepa...	ORPHA:824
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypoglycemic seizure...	ORPHA:199296
Acth Deficiency, Isolated	Cholestasis, Decreased circulating cortisol level, Fasting hypoglycemia, Jaundice	OMIM:201400
Flynn-Aird Syndrome	Hyperkeratosis	OMIM:136300
Ichthyosis, Hystrix-Like, With Deafness	Palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Cobblestone-like hyperkeratosis, Palmopl...	OMIM:602540
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
X-Linked Agammaglobulinemia	Fever, Recurrent cutaneous abscess formation, Skin rash, Hepatitis, Skin ulcer, Weight loss, Hypo...	ORPHA:47
21Q22.11Q22.12 Microdeletion Syndrome	Hyperactivity, Failure to thrive in infancy, Tongue thrusting, Self-injurious behavior, Stereotyp...	ORPHA:261323
Maxillonasal Dysplasia	Striae distensae	ORPHA:1248
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Death in infancy, Small for gestational age, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:619055
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Lymphedema, Hyperkeratosis, Hepatomegaly	ORPHA:79279
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase con...	OMIM:608779
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Erythema migrans, Skin vesicle	ORPHA:158681
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Death in infancy, Hypoammonemia, Skin ulcer, Dehydration, Hypophosphatemia, Joint s...	ORPHA:534
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hyperalaninemia, Failure to thrive, Hypoglycemia, Hyperammonemia	OMIM:614739
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis, Agitation, Self-injurious behavior	OMIM:618339
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypoinsulinemia, Obesity, Reactive hypoglycemia	OMIM:600955
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis	ORPHA:89843
Acute Myelomonocytic Leukemia	Pallor, Weight loss	ORPHA:517
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Dehydration, Hyperglycinemia, Failure to th...	OMIM:251100
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuric...	OMIM:232200
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:607398
Menkes Disease	Hypoglycemia, Hypothermia, Thickened skin, Hyperextensible skin, Prolonged neonatal jaundice, Int...	ORPHA:565
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Death in infancy, Hypothermia	ORPHA:168593
Cushing Disease	Diabetes mellitus, Acne, Paradoxical increased cortisol secretion on dexamethasone suppression te...	ORPHA:96253
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Dehydration, Weight loss, Glycosuria, Pancreatic hy...	ORPHA:99885
Pituitary Apoplexy	Fever, Hyponatremia, Hypoglycemia, Increased circulating cortisol level, Pallor	ORPHA:95613
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Low plas...	OMIM:261680
Lymphatic Malformation 4	Hyperkeratosis, Pedal edema, Lymphedema	OMIM:615907
Peroxisome Biogenesis Disorder 14B	Dry skin	OMIM:614920
Bartter Syndrome Type 4	Hyponatremia, Small for gestational age, Polyhydramnios, Dehydration, Hypochloremia, Hypokalemia,...	ORPHA:89938
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Hyperalaninemia	OMIM:266150
Bullous Pemphigoid	Diabetes mellitus, Psoriasiform dermatitis, Eczema, Erythema, Weight loss	ORPHA:703
Chromosome 19Q13.11 Deletion Syndrome, Distal	Intrauterine growth retardation, Failure to thrive, Dry skin	OMIM:613026
Bartter Syndrome, Type 3	Hyperchloriduria, Dehydration, Hypokalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:607364
Rothmund-Thomson Syndrome, Type 1	Hyperkeratosis	OMIM:618625
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Hypoglycemia	OMIM:615962
Helix Syndrome	Hypermagnesemia, Xerostomia, Hypokalemia, Polydipsia, Dry skin, Heat intolerance	OMIM:617671
Kaposi Sarcoma	Fever, Skin rash, Lymphedema, Abnormality of the spleen, Weight loss, Abnormality of the liver	ORPHA:33276
Resistance To Thyrotropin-Releasing Hormone Syndrome	Overweight, Abnormal circulating thyroglobulin level, Dry skin, Prolonged neonatal jaundice	ORPHA:99832
Vulvovaginal Gingival Syndrome	Pruritus, Parakeratosis, Erythema	ORPHA:83453
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Small for gestational age, Hypoglycemia	ORPHA:231137
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulati...	ORPHA:26791
Mednik Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, In...	ORPHA:171851
Koolen-De Vries Syndrome	Ichthyosis, Dry skin, Overfriendliness	ORPHA:96169
Nodular Non-Suppurative Panniculitis	Fever, Hepatomegaly, Edema, Splenomegaly, Erythema, Weight loss	ORPHA:33577
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra...	OMIM:609015
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Death in infancy, Hypoglycemia, Microvesicular hepatic steatosis, ...	OMIM:611126
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Hepatomegaly, Methylmalonic acidemia, Hypoglycemia, Hypothermia, A...	ORPHA:17
Inflammatory Pseudotumor Of The Liver	Fever, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated...	ORPHA:90003
Polyarteritis Nodosa	Fever, Elevated circulating C-reactive protein concentration, Erythema, Skin ulcer, Weight loss	ORPHA:767
Microvillus Inclusion Disease	Dehydration	ORPHA:2290
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Patent ductus arteriosus, Truncal obesity, Attention deficit hyperactivity disorder, Intrauterine...	ORPHA:2637
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Hyperextensible skin, Petechiae, Striae distensae	OMIM:225310
Alg8-Cdg	Elevated hepatic transaminase, Hyponatremia, Failure to thrive, Small for gestational age, Edema,...	ORPHA:79325
Cystinosis, Nephropathic	Hyponatremia, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysp...	OMIM:219800
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Ketotic hypoglycemia, Anorexia, Hyperkalemia,...	ORPHA:361
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia	OMIM:618241
Xeroderma Pigmentosum	Fever, Failure to thrive, Thickened skin, Erythema, Hyperkeratosis, Dry skin	ORPHA:910
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Redundant neck skin, Patent ductus arteriosus, Weight loss, Failure to thrive	ORPHA:1842
Mu-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Fever, Weight loss	ORPHA:100024
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Small for gestational age, Hypoglycemia, Decreased body weight, Intrauterine g...	ORPHA:391408
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Parakeratosis, Maculopapular exanthema, Skin rash, S...	ORPHA:398124
Mulibrey Nanism	Hepatomegaly, Cachexia, Intrauterine growth retardation	ORPHA:2576
Silver-Russell Syndrome Due To A Point Mutation	Small for gestational age, Hypoglycemia, Attention deficit hyperactivity disorder, Intrauterine g...	ORPHA:397590
Cystic Fibrosis	Hepatomegaly, Biliary cirrhosis, Dehydration, Hepatosplenomegaly, Cirrhosis, Steatorrhea, Failure...	OMIM:219700
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:228308
Hsd10 Disease, Infantile Type	Restlessness, Hypoglycemia, Hyperammonemia, Dysphagia, Paroxysmal bursts of laughter	ORPHA:391428
Alg12-Cdg	Elevated hepatic transaminase, Hyponatremia, Redundant skin, Polyhydramnios, Edema, Patent ductus...	ORPHA:79324
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ...	OMIM:601952
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Miscarriage, Acne, Hyperkalemia, Dehydration,...	ORPHA:90794
Takayasu Arteritis	Anorexia, Fever, Skin ulcer, Weight loss	ORPHA:3287
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Neonatal death, Elevated circulating glutaric a...	OMIM:231680
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c, Dehydration	ORPHA:79134
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia	ORPHA:664
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Fever, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Jaundice, Hyperkalemia, ...	ORPHA:90790
Immunodeficiency 27A	Fever, Anorexia, Splenomegaly, Weight loss, Hepatosplenomegaly, Hypoalbuminemia	OMIM:209950
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia	ORPHA:5
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Jung Syndrome	Dry skin	ORPHA:2321
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:618120
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Skin rash, Slender build, Attention deficit hyperactivity disorder, Recurrent hand...	OMIM:617600
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Dry skin, Aggressive behavior	OMIM:619244
Autosomal Recessive Cutis Laxa Type 1	Intrauterine growth retardation, Redundant skin, Cutis laxa, Lack of skin elasticity	ORPHA:90349
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Skin rash, Hypercalcemia, Anorexia, Ne...	ORPHA:97280
Genetic Transient Congenital Hypothyroidism	Increased circulating thyroglobulin level, Hypothermia, Edema, Prolonged neonatal jaundice	ORPHA:226316
Mitochondrial Trifunctional Protein Deficiency 2	Death in infancy, Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulati...	OMIM:620300
Syndromic Diarrhea	Hepatomegaly, Small for gestational age, Splenomegaly, Patent ductus arteriosus, Abnormality of t...	ORPHA:84064
Congenital Disorder Of Glycosylation, Type Ig	Small for gestational age, Hypoglycemia, Polyhydramnios, Edema, Patent ductus arteriosus, Hypocal...	OMIM:607143
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Failure to thrive, Heat intolerance	OMIM:615279
Microsporidiosis	Fever, Cholangitis, Cachexia, Anorexia, Abnormality of the spleen, Peritonitis, Biliary tract abn...	ORPHA:2552
Mass Syndrome	Striae distensae	OMIM:604308
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Increased number of skin folds, Redundant skin, Cutis laxa	ORPHA:436274
Kanzaki Disease	Hyperkeratosis, Dry skin, Petechiae, Lymphedema	OMIM:609242
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Dehydration, Hypophosphatemia, Hypokalemia, Glycosuria, Polydip...	ORPHA:411629
Ichthyosis, Congenital, Autosomal Recessive 2	Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar ke...	OMIM:242100
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Dehydration, Hypophosp...	ORPHA:411634
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Noonan Syndrome 14	Dry skin, Polyhydramnios	OMIM:619745
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Death in infancy, Elevated circulating creatine kinase con...	OMIM:201475
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Intrauterine growth retardation, Hypoglycemia, Severe temper tantrums, Aggressive behavior	OMIM:617710
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta...	OMIM:300918
Acute Radiation Syndrome	Fever, Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Scaling skin	ORPHA:454831
Hereditary Central Diabetes Insipidus	Fever, Polydipsia, Weight loss	ORPHA:30925
Majeed Syndrome	Fever, Hepatomegaly, Inflammatory abnormality of the skin, Acne, Cachexia, Edema, Pustule, Spleno...	ORPHA:77297
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Death in infancy, Perianal erythema, Eczema, R...	OMIM:308205
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Elevated circulati...	ORPHA:99901
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma	OMIM:613576
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Fever, Skin rash, Pustule, Angioedema, Eryt...	ORPHA:139402
Ichthyosis Prematurity Syndrome	Polyhydramnios, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma	OMIM:608649
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Dry skin, Polyhydramnios	ORPHA:1812
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia, Hypocalcemia, Neonatal hypoglycemia	OMIM:606407
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp...	OMIM:232220
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Hypothermia, Edema, Prolonged neonatal jaundice, Neona...	ORPHA:90673
Progressive Nodular Histiocytosis	Fever, Cachexia	ORPHA:158022
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Fever, Polyhydramnios, Anorexia, Hypernatremia, Polydipsia, Failure to...	ORPHA:223
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Failure to thrive, Death in childhood, Hyperkeratosis, Stillbirth, Hyperbilirub...	OMIM:210710
Maple Syrup Urine Disease	Elevated circulating branched chain amino acid concentration, Hypoglycemia, Elevated circulating ...	OMIM:248600
9P13 Microdeletion Syndrome	Dry skin, Attention deficit hyperactivity disorder, Bruxism	ORPHA:324313
Lipoid Proteinosis	Acne, Pustule, Thickened skin, Hyperkeratosis, Dysphagia	ORPHA:530
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re...	ORPHA:2457
Mirage Syndrome	Hyponatremia, Hypoglycemia, Patent ductus arteriosus, Hyperkalemia, Decreased body weight, Intrau...	OMIM:617053
Oculopharyngodistal Myopathy	Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia, Weight loss	ORPHA:98897
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Fever, Psoriasiform dermatitis, Acne, Skin rash, Edema, Elevated circulating C-reactive protein c...	ORPHA:324964
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Failure to thrive in infancy, Skin rash, Elevated circulating C-reactive protein co...	OMIM:612852
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Splenomegaly, Increased...	ORPHA:465508
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis, Cerebral edema	OMIM:201450
Ethylene Glycol Poisoning	Hypothermia, Hyperkalemia, Renal tubular epithelial necrosis, Addictive alcohol use, Hypocalcemia...	ORPHA:31826
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Abnormality of temperature regulation, Weight loss	ORPHA:42642
Immunodeficiency 55	Recurrent skin infections, Eczema, Ichthyosis, Intrauterine growth retardation, Dry skin	OMIM:617827
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Dry skin	OMIM:618797
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Large for gestationa...	OMIM:280000
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Aggressive behavior, Patent ductus arteriosus, Compulsive ...	ORPHA:163956
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hypercholesterolem...	OMIM:610644
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Rapp-Hodgkin Syndrome	Dry skin, Palmoplantar keratoderma	OMIM:129400
D-Glyceric Aciduria	Hypoglycemia, Patent ductus arteriosus, Tongue thrusting, Nonketotic hyperglycinemia, Failure to ...	OMIM:220120
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Fever, Hypoglycemia, Recurrent fever	OMIM:201910
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Fever, Abnormality of temperature regulation, Obesity, Hypothermia	OMIM:618493
Elastoderma	Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa	ORPHA:228240
Ameloonychohypohidrotic Syndrome	Dry skin, Seborrheic dermatitis	OMIM:104570
Chromomycosis	Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Hyperkerato...	ORPHA:182
Intellectual Developmental Disorder, Autosomal Dominant 54	Small for gestational age, Eczema, Aggressive behavior, Bruxism, Dry skin	OMIM:617799
Primary Fanconi Renotubular Syndrome	Hypoglycemia, Hypouricemia, Bicarbonaturia, Dehydration, Weight loss, Hypophosphatemia, Decreased...	ORPHA:3337
Olmsted Syndrome 2	Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa...	OMIM:619208
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis...	ORPHA:298
Fucosidosis	Hepatomegaly, Splenomegaly, Dry skin, Failure to thrive, Petechiae	OMIM:230000
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Palmoplantar Keratoderma And Congenital Alopecia 1	Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis	OMIM:104100
Dermatomyositis	Fever, Edema, Periorbital edema, Pruritus, Erythema, Skin ulcer, Weight loss, Dry skin	ORPHA:221
Rhabdoid Tumor	Fever, Neoplasm of the liver, Hypercalcemia, Weight loss	ORPHA:69077
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Fever, Portal hypertension, S...	ORPHA:131
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
Renal Hypoplasia	Polydipsia, Small for gestational age, Dehydration	ORPHA:93101
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia	OMIM:616483
Hutchinson-Gilford Progeria Syndrome	Insulin resistance, Lack of skin elasticity, Weight loss, Severe failure to thrive, Premature ski...	ORPHA:740
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotr...	OMIM:614921
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma	OMIM:133200
Oligomeganephronia	Polydipsia, Elevated circulating creatinine concentration, Small for gestational age, Dehydration	ORPHA:2260
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hepatocellul...	ORPHA:79259
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Edema, Lymphedema, Thickened skin, Skin ulcer, Scaling skin, Chylothorax, Pleural effusion, Dry s...	ORPHA:2526
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Diabetes mellitus, Acne, Paradoxical increased cortisol secretion on d...	ORPHA:99889
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:212138
Multicentric Reticulohistiocytosis	Fever, Cachexia	ORPHA:139436
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Death in infanc...	OMIM:300972
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hypoglycem...	OMIM:276700
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Increased body weight, Increased proinsulin:insulin...	ORPHA:94086
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Facial erythema, Palmoplantar keratoderma, Scaling skin, Dry skin, Sclerodactyly	ORPHA:1010
Recon Progeroid Syndrome	Dry skin, Scaling skin	OMIM:620370
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Dry skin, Skin rash, Cachexia	ORPHA:220295
Blau Syndrome	Fever, Skin rash, Erythema nodosum, Splenomegaly, Erythema, Xerostomia, Skin ulcer, Joint swellin...	ORPHA:90340
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Attention deficit hyperactivity disorder, Ichthyosis	ORPHA:281090
Trichothiodystrophy	Congenital exfoliative erythroderma, Eczema, Ichthyosis, Intrauterine growth retardation, Dry skin	ORPHA:33364
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Mitochondrial Dna-Associated Leigh Syndrome	Fever, Hepatomegaly, Hypothermia, Low plasma citrulline, Dysphagia, Hepatic failure, Hyperalanine...	ORPHA:255210
Christianson Syndrome	Death in early adulthood, Cachexia, Inappropriate laughter, Dysphagia, Abnormal repetitive manner...	ORPHA:85278
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Hyperkeratosis, Malar rash, Psoriasiform lesion	ORPHA:163525
Alexander Disease	Diabetes mellitus, Hypothermia, Self-injurious behavior, Dysphagia, Failure to thrive	ORPHA:58
Nelson Syndrome	Increased circulating cortisol level, Hypokalemia, Type II diabetes mellitus, Secondary hypercort...	ORPHA:199244
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ...	OMIM:242300
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss, Acantholysis	ORPHA:704
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod...	OMIM:148700
Aggressive Systemic Mastocytosis	Maculopapular exanthema, Portal hypertension, Anorexia, Hypersplenism, Pruritus, Hepatosplenomega...	ORPHA:98850
Tbck-Related Intellectual Disability Syndrome	Abnormal circulating lipid concentration, Eczema, Hypothermia, Oligohydramnios	ORPHA:488632
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Intrauterine growth retardation, Recurrent hypoglycemia, Small for gestational age	OMIM:616817
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Anorexia, Intrahepatic ...	ORPHA:97283
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypouricemia, Large...	OMIM:616026
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia	OMIM:210200
Silver-Russell Syndrome 2	Intrauterine growth retardation, Neonatal hypoglycemia	OMIM:618905
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Fever, Eczema, Periorbital wrinkles, Soft skin, Dry skin, Heat intolerance	OMIM:305100
Flynn-Aird Syndrome	Cachexia, Type II diabetes mellitus, Skin ulcer	ORPHA:2047
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Weight loss	ORPHA:26790
Hidrotic Ectodermal Dysplasia	Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	ORPHA:189
Silver-Russell Syndrome 1	Intrauterine growth retardation, Small for gestational age, Fasting hypoglycemia, Hepatocellular ...	OMIM:180860
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Dehydration, Hypophosphatemia, Hypokalemia, Hypoc...	ORPHA:31824
Eec Syndrome	Hyperkeratosis, Dry skin, Xerostomia	ORPHA:1896
Hajdu-Cheney Syndrome	Hepatomegaly, Failure to thrive, Splenomegaly, Patent ductus arteriosus, Thickened skin, Skin ulc...	ORPHA:955
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Elevated circulating creatine kinase concentration, Edema, Spl...	OMIM:604173
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Hypophosphatemia	ORPHA:2611
Juvenile Huntington Disease	Hyperactivity, Weight loss	ORPHA:248111
Cranioectodermal Dysplasia 3	Dry skin, Cirrhosis, Cutis laxa	OMIM:614099
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Fever, Maculopapular exanthema, Anorexia, Pericardia...	ORPHA:781
Glycerol Kinase Deficiency	Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hyperglycerolemia, Chronic pancrea...	OMIM:307030
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Eczema, Weight loss, Hypocalcemia, Steatorrhea, Type I diabetes me...	OMIM:212750
Ehlers-Danlos Syndrome, Classic-Like	Soft skin, Hyperextensible skin, Striae distensae	OMIM:606408
Milroy Disease	Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas	ORPHA:79452
Orthostatic Hypotension 1	Hypomagnesemia, Intermittent hypothermia, Neonatal hypoglycemia, Increased blood urea nitrogen	OMIM:223360
Cog8-Cdg	Elevated hepatic transaminase, Failure to thrive, Hypoglycemia	ORPHA:95428
Granulomatous Slack Skin	Hypercalcemia, Erythema, Redundant skin, Cutis laxa	ORPHA:33111
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Fever, Acantholysis, Erythema, Weight loss,...	ORPHA:36426
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ano...	ORPHA:100085
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Hypercalcemia, Anorexia, Insulinoma, Dehydration, Weight loss, Increase...	ORPHA:652
Non-Functioning Paraganglioma	Hypercalcemia, Pallor, Weight loss	ORPHA:94080
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Hepatic steatosis, Hypoketoti...	OMIM:231530
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia	OMIM:248360
Bronchial Neuroendocrine Tumor	Hepatomegaly, Anorexia, Weight loss, Increased circulating cortisol level, Hepatic failure	ORPHA:97287
Cockayne Syndrome B	Hepatomegaly, Failure to thrive, Small for gestational age, Splenomegaly, Death in childhood, Sev...	OMIM:133540
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Failure to thrive, Small for gestational age, Slender build, Porta...	OMIM:613658
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Fever, Weight loss, Skin ulcer, Hepatosplenomegaly	ORPHA:86884
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Fetal ascites, Facial erythema, Scaling skin, Hypocalcemia, Hepatic steatosis, Portal hypertensio...	OMIM:619503
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Acantholysis, Erythema, Skin ulcer, Weight ...	ORPHA:537
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypoglycemia, Polyhydramnios, Patent ductus arteriosus, Intrauterine growth retardation, Failure ...	OMIM:618005
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Patent ductus arteriosus, Dehydration...	ORPHA:96191
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypoglycemia, Hypothermia, Facial edema, Overweight, Prolonged neonatal jaundice, Abnormal circul...	ORPHA:226307
Hallermann-Streiff Syndrome	Hyperactivity, Dry skin, Small for gestational age	OMIM:234100
Dubowitz Syndrome	Intrauterine growth retardation, Dry skin, Eczema, Attention deficit hyperactivity disorder	ORPHA:235
X-Linked Dominant Chondrodysplasia Punctata	Ichthyosis, Scaling skin, Neonatal hypoglycemia, Erythroderma	ORPHA:35173
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ...	ORPHA:480864
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Glycogen Storage Disease Ixd	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:300559
Gm1 Gangliosidosis	Splenomegaly, Patent ductus arteriosus, Thickened skin, Hydrops fetalis, Hepatosplenomegaly, Weig...	ORPHA:354
Dyskeratosis Congenita, Autosomal Dominant 3	Intrauterine growth retardation, Dry skin	OMIM:613990
Cronkhite-Canada Syndrome	Hepatomegaly, Anorexia, Cachexia, Lymphedema, Splenomegaly	ORPHA:2930
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Dry skin, Xerostomia, Periorbital wrinkles	OMIM:614941
Acute Promyelocytic Leukemia	Fever, Anorexia, Weight loss, Addictive alcohol use, Ecchymosis, Petechiae, Purpura	ORPHA:520
Focal Myositis	Fever, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Acquired Hypertrichosis Lanuginosa	Ichthyosis, Thickened skin, Acanthosis nigricans, Weight loss	ORPHA:2221
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Splenomegaly, Dry skin, Failure to thrive, Heat intolerance	OMIM:612132
Isaacs Syndrome	Weight loss	ORPHA:84142
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Edema, Pericardial effusion, Weight loss, Hypoalbuminemia, Hypocalcemia, Hyp...	ORPHA:90362
Autosomal Dominant Hypocalcemia	Eczema, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Dry skin	ORPHA:428
Smith-Kingsmore Syndrome	Hypoglycemia, Large for gestational age	OMIM:616638
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Anorexia, Elevated circulating al...	ORPHA:370348
Primary Sclerosing Cholangitis	Acute hepatic failure, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of the gallbladder, Hepatomega...	ORPHA:171
Houge-Janssens Syndrome 1	Intrauterine growth retardation, Hypoglycemia	OMIM:616355
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Anorexia, Intrahepatic cholestasis, Extrah...	ORPHA:97278
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Dry skin, Small for gestational age, Scaling skin	OMIM:618419
Cutis Laxa, Autosomal Recessive, Type Iiia	Low plasma citrulline, Hyperammonemia, Cutis laxa, Hypoprolinemia, Hyperextensible skin, Hypoorni...	OMIM:219150
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Chilblains, Unexplained fevers, Hepatosplenomeg...	ORPHA:51
Fanconi-Bickel Syndrome	Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Intrah...	OMIM:227810
Plague	Fever, Hepatomegaly, Chapped lip, Skin rash, Edema, Anorexia, Erythema nodosum, Splenomegaly, Ski...	ORPHA:707
Glutaric Acidemia I	Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating glutaric acid concentration	OMIM:231670
Whipple Disease	Fever, Hepatomegaly, Hyponatremia, Cachexia, Anorexia, Splenomegaly, Insulin resistance, Pedal ed...	ORPHA:3452
Severe Generalized Junctional Epidermolysis Bullosa	Recurrent skin infections, Edema, Abnormal blood ion concentration, Renal tubular epithelial necr...	ORPHA:79404
Idiopathic Chronic Eosinophilic Pneumonia	Fever, Elevated circulating C-reactive protein concentration, Atopic dermatitis, Weight loss, Ple...	ORPHA:2902
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Palmoplantar keratoderma, Dysphagia	OMIM:616029
Congenital Muscular Dystrophy Due To Lmna Mutation	Death in infancy, Cachexia	ORPHA:157973
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hep...	OMIM:232240
Deeah Syndrome	Hepatomegaly, Death in infancy, Abnormality of temperature regulation, Polyhydramnios, Dysphagia,...	OMIM:619004
Osteosarcoma	Fever, Joint swelling, Weight loss	ORPHA:668
Leigh Syndrome	Hyperalaninemia, Hypoglycemia, Eczema, Dysphagia, Hepatic failure, Intrauterine growth retardatio...	ORPHA:506
Wiedemann-Rautenstrauch Syndrome	Failure to thrive, Hypertriglyceridemia, Small for gestational age, Dysphagia, Intrauterine growt...	OMIM:264090
Holocarboxylase Synthetase Deficiency	Eczema, Anorexia, Hyperammonemia, Weight loss, Perioral eczema	ORPHA:79242
Shashi-Pena Syndrome	Intrauterine growth retardation, Patent ductus arteriosus, Hypoglycemia	OMIM:617190
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Hypoglycemia, Seborrheic dermatitis, Hyperammonemia, Hyperleucinemia, Failu...	OMIM:210210
Thymic Neuroendocrine Tumor	Hypercalcemia, Increased circulating cortisol level, Pancreatic islet cell adenoma, Weight loss	ORPHA:97289
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Huntington Disease-Like 2	Weight loss	OMIM:606438
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Weight loss, As...	ORPHA:83469
Histiocytoid Cardiomyopathy	Fever, Hepatomegaly, Hypoglycemia, Pallor, Failure to thrive, Pulmonary edema	ORPHA:137675
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion, Fever, Weight loss	ORPHA:411703
Tooth Agenesis, Selective, 4	Dry skin, Palmar hyperkeratosis	OMIM:150400
X-Linked Creatine Transporter Deficiency	Hyperactivity, Redundant skin, Cachexia, Abnormal circulating creatine concentration, Self-mutila...	ORPHA:52503
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Peritonitis, Elevated circulating creatinine concentration, Dehydration, Hypokalemi...	ORPHA:90038
Alexander Disease Type I	Failure to thrive, Cachexia, Dysphagia	ORPHA:363717
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Dry skin	OMIM:619306
Yao Syndrome	Inflammatory abnormality of the skin, Skin rash, Xerostomia, Weight loss, Recurrent fever	OMIM:617321
Ichthyosis, Congenital, Autosomal Recessive 11	Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma	OMIM:602400
Malignant Peritoneal Mesothelioma	Peritonitis, Ascites, Pedal edema, Weight loss	ORPHA:168811
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ...	OMIM:616878
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Distal Renal Tubular Acidosis	Polydipsia, Failure to thrive, Hypokalemia, Dehydration	ORPHA:18
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Epidermal hyperkeratosis, Dermal transluc...	OMIM:137940
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis	ORPHA:79151
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Hypothermia	OMIM:608800
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Intrauterine growth retardation, Hypoglycemia, Death in infancy	OMIM:620275
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Jaundice, Low plasma citrulline, Hyperammonemia, Hyperprolinemia...	OMIM:615751
Fabry Disease	Fever, Anorexia, Lymphedema, Hyperlipidemia, Hyperkeratosis, Abnormal circulating lipid concentra...	ORPHA:324
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis, Death in infancy, Intrauterine growth retardation	ORPHA:163966
Ménétrier Disease	Anorexia, Weight loss, Peripheral edema, Hypoalbuminemia, Hypoproteinemia	ORPHA:2494
Nestor-Guillermo Progeria Syndrome	Failure to thrive, Dry skin	OMIM:614008
Sotos Syndrome	Aggressive behavior, Patent ductus arteriosus, Increased body weight, Glucose intolerance, Attent...	OMIM:117550
Riboflavin Transporter Deficiency	Dysphagia, Cachexia, Aggressive behavior	ORPHA:97229
Mast Cell Sarcoma	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:66661
Erdheim-Chester Disease	Fever, Polydipsia, Skin rash, Retroperitoneal fibrosis, Weight loss, Xanthelasma, Joint swelling,...	ORPHA:35687
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis	ORPHA:1573
Cryptogenic Organizing Pneumonia	Fever, Elevated circulating C-reactive protein concentration, Anorexia, Weight loss	ORPHA:1302
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Fructose-1,6-Bisphosphatase Deficiency	Fever, Hepatomegaly, Hypoglycemia	OMIM:229700
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion	OMIM:616298
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Poems Syndrome	Diabetes mellitus, Edema, Pericardial effusion, Thickened skin, Abnormality of skin physiology, W...	ORPHA:2905
Short Syndrome	Excessive wrinkled skin, Insulin resistance, Diabetes mellitus, Weight loss	ORPHA:3163
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepati...	OMIM:124000
Refractory Celiac Disease	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Weight loss, Hypophosphatemi...	ORPHA:398063
Polymyositis	Fever, Hepatomegaly, Elevated circulating creatine kinase concentration, Anorexia, Weight loss	ORPHA:732
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Anorexia, Intrahepatic cholestasis, Extrah...	ORPHA:97261
Graves Disease, Susceptibility To, 1	Hyperactivity, Polyphagia, Weight loss	OMIM:275000
Allergic Bronchopulmonary Aspergillosis	Low-grade fever, Weight loss	ORPHA:1164
Rheumatoid Arthritis	Fever, Joint swelling, Elevated circulating C-reactive protein concentration, Weight loss	OMIM:180300
Proximal Renal Tubular Acidosis	Bicarbonaturia, Dehydration, Hypokalemia, Glycosuria, Polydipsia, Failure to thrive	ORPHA:47159
Sialidosis Type 1	Splenomegaly, Hyperkeratosis	ORPHA:812
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Insulin resistance, Obesity, Recurrent hypoglycemia, Intr...	ORPHA:813
Cockayne Syndrome A	Hepatomegaly, Splenomegaly, Dry skin, Intrauterine growth retardation, Failure to thrive	OMIM:216400
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Adult Syndrome	Dry skin, Eczema	OMIM:103285
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Intrauterine growth reta...	ORPHA:2609
Wild Type Attr Amyloidosis	Hepatomegaly, Pedal edema, Weight loss, Pleural effusion, Pulmonary edema	ORPHA:330001
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hypoglycemia, Aggressive behavior, Obesity, Hepatosplenomegaly, Cholecystitis, Acan...	OMIM:301066
Hypothyroidism, Congenital, Nongoitrous, 2	Hyperbilirubinemia, Dry skin, Increased circulating thyroglobulin level, Hypothermia	OMIM:218700
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Malignant hyperthermia, Hyperph...	ORPHA:466650
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Fever, Liver abscess, Elevated circulating C-reactive protein conc...	ORPHA:54251
Huntington Disease-Like 1	Restlessness, Weight loss	ORPHA:157941
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal repetitive mannerisms, Hypoglycemia, Abnormal temper tantrums, Aggressive behavior	ORPHA:457279
Noonan Syndrome 10	Patent ductus arteriosus, Increased nuchal translucency, Hyperkeratosis, Hyperextensible skin, Pa...	OMIM:616564
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Hyperactivity, Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis, Hyperextensible...	OMIM:607721
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Dry skin	OMIM:614940
Pancreatic And Cerebellar Agenesis	Death in infancy, Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation, Pancre...	OMIM:609069
Eosinophilic Fasciitis	Muscular edema, Edema, Weight loss	ORPHA:3165
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Hypoglycemia	OMIM:608688
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Dry skin, Eczema	ORPHA:508542
Giant Cell Arteritis	Fever, Anorexia, Skin ulcer, Weight loss, Hepatic failure	ORPHA:397
Ectodermal Dysplasia-Blindness Syndrome	Hyperkeratosis, Skin ulcer	ORPHA:1806
Acute Monoblastic/Monocytic Leukemia	Periorbital edema, Fever, Anorexia, Weight loss	ORPHA:514
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Hypercalcemia, Pancreatic islet cell adenoma, Insulinoma, Increased circulating cor...	OMIM:131100
Acute Liver Failure	Elevated hepatic transaminase, Fever, Skin rash, Hypoglycemia, Jaundice, Hepatitis, Hepatic necro...	ORPHA:90062
Aredyld Syndrome	Hepatomegaly, Cachexia, Splenomegaly, Type II diabetes mellitus, Type I diabetes mellitus, Intrau...	ORPHA:1133
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Elevated circulating glutaric acid concentration, Microvesicular h...	ORPHA:66634
Bone Marrow Failure Syndrome 3	Hyperactivity, Eczema, Pancreatic steatosis, Hyperkeratosis, Hyperechogenic pancreas, Intrauterin...	OMIM:617052
Thymic Carcinoma	Palpebral edema, Edema, Weight loss	ORPHA:99868
Hereditary Sensory And Autonomic Neuropathy Type 4	Nail-biting, Hyperactivity, Unexplained fevers, Impulsivity, Hypothermia, Dysphagia, Dry skin, Se...	ORPHA:642
Noonan Syndrome 2	Polyhydramnios, Increased nuchal translucency, Patent ductus arteriosus, Hyperkeratosis, Hyperext...	OMIM:605275
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Cachexia, Polyhydramnios	OMIM:618186
Adult-Onset Autosomal Dominant Leukodystrophy	Temperature instability, Hypothermia, Dysphagia	ORPHA:99027
Alveolar Echinococcosis	Fever, Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morp...	ORPHA:284
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	ORPHA:85450
Adult Syndrome	Dry skin, Skin ulcer	ORPHA:978
Barber-Say Syndrome	Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency	OMIM:209885
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle, Follicular hyperkeratosis	OMIM:613102
Loeys-Dietz Syndrome 4	Hyperextensible skin, Striae distensae	OMIM:614816
Renpenning Syndrome	Diabetes mellitus, Cachexia	ORPHA:3242
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Fever, Liver abscess, Weight loss, Pleural empyema, Hypoalbuminemi...	ORPHA:67
Primary Sjögren Syndrome	Chronic active hepatitis, Erythema nodosum, Xerostomia, Biliary cirrhosis, Skin ulcer, Chronic he...	ORPHA:289390
Ullrich Congenital Muscular Dystrophy 1	Failure to thrive, Slender build, Mildly elevated creatine kinase, Follicular hyperkeratosis	OMIM:254090
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hyperactivity, Neonatal hypoglycemia, Large for gestational age	ORPHA:457485
Sarcoidosis	Fever, Hepatomegaly, Maculopapular exanthema, Hypercalcemia, Portal hypertension, Hypothermia, Er...	ORPHA:797
Occipital Horn Syndrome	Hypothermia, Jaundice, Hepatitis, Cholestasis, Hyperextensible skin, Dysphagia	ORPHA:198
Isolated Succinate-Coq Reductase Deficiency	Intrauterine growth retardation, Weight loss	ORPHA:3208
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Psoriasiform dermatitis, Hyperkalemia, Recurr...	ORPHA:293978
Cutis Laxa, Autosomal Dominant 2	Premature skin wrinkling, Cutis laxa	OMIM:614434
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Palpebral edema, Skin rash, Anorexia, Elevated circu...	ORPHA:50918
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Aromatic L-Amino Acid Decarboxylase Deficiency	Temperature instability, Tongue thrusting, Intermittent hypothermia	OMIM:608643
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Hypoglycemia	OMIM:615577
Rat-Bite Fever	Fever, Maculopapular exanthema, Skin rash, Erythema nodosum, Pustule, Weight loss, Scaling skin, ...	ORPHA:31205
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hyperkeratosis	ORPHA:1883
Eosinophilic Granulomatosis With Polyangiitis	Fever, Skin rash, Weight loss, Dysphagia, Purpura	ORPHA:183
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Macs Syndrome	Palpebral edema, Redundant skin, Cutis laxa, Ichthyosis, Hyperextensible skin, Decreased body wei...	OMIM:613075
Igg4-Related Retroperitoneal Fibrosis	Fever, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Anorexia, Eleva...	ORPHA:49041
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Intrauterine growth retardation, Failure to thrive in infancy, Cachexia	OMIM:616801
Systemic Mastocytosis With Associated Hematologic Neoplasm	Fever, Hepatomegaly, Pruritus, Splenomegaly, Weight loss, Pallor	ORPHA:98849
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Cholestasis, Hypocalcemia, Diffuse hepatic steatosis, Chronic hepat...	ORPHA:746
Al Amyloidosis	Hepatomegaly, Increased circulating NT-proBNP concentration, Xerostomia, Weight loss, Abnormality...	ORPHA:85443
Scalp-Ear-Nipple Syndrome	Thickened skin, Dry skin, Palpebral edema	OMIM:181270
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Death in infancy, Hypoglycemia, Splenomegaly, Hepatic failure, Hyperalaninemia, Fai...	OMIM:252010
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Pancreatic cysts, Abnormality of the pancreas, Dry skin, Exocrine ...	ORPHA:2750
Pachyonychia Congenita	Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar keratoderma, Follicular h...	ORPHA:2309
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia	OMIM:301032
Cardiofaciocutaneous Syndrome 1	Polyhydramnios, Splenomegaly, Tongue thrusting, Atopic dermatitis, Hyperkeratosis, Ichthyosis, Fa...	OMIM:115150
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia, Increased circulating cortisol level, Acne, Hypoglycemia	ORPHA:786
Post-Traumatic Pituitary Deficiency	Hypoglycemia	ORPHA:95619
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Aicardi-Goutieres Syndrome 7	Fever, Hepatomegaly, Skin rash, Chilblains, Edema, Pericardial effusion, Splenomegaly, Increased ...	OMIM:615846
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Nephroblastoma	Fever, Neoplasm of the liver, Weight loss	ORPHA:654
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis	ORPHA:1839
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Mcdonough Syndrome	Cachexia	ORPHA:2471
Pituitary Stalk Interruption Syndrome	Death in infancy, Failure to thrive, Hypoglycemia	ORPHA:95496
Bannayan-Riley-Ruvalcaba Syndrome	Hypoglycemia, Cachexia, Lymphedema	ORPHA:109
Zollinger-Ellison Syndrome	Hypercalcemia, Jaundice, Erythema, Extrahepatic cholestasis, Weight loss, Increased circulating c...	ORPHA:913
Systemic Capillary Leak Syndrome	Pedal edema, Weight loss, Pleural effusion, Pancreatitis, Pulmonary edema	ORPHA:188
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Polyendocrine-Polyneuropathy Syndrome	Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia	ORPHA:453533
Gallbladder Neuroendocrine Tumor	Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, C...	ORPHA:100086
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Recurrent skin infections, Hypoglycemia, Prolonged neonatal jaundice, Acne inversa	OMIM:233600
Brucellosis	Fever, Hepatomegaly, Liver abscess, Small for gestational age, Miscarriage, Anorexia, Elevated ci...	ORPHA:1304
Bartsocas-Papas Syndrome 1	Intrauterine growth retardation, Dry skin	OMIM:263650
Hyperoxaluria, Primary, Type I	Dehydration	OMIM:259900
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Anorexia, Jaundice, ...	ORPHA:1333
Monilethrix	Follicular hyperkeratosis	ORPHA:573
Fucosidosis	Hepatomegaly, Failure to thrive, Abnormality of the gallbladder, Generalized hyperkeratosis	ORPHA:349
Perlman Syndrome	Hypoglycemia, Polyhydramnios, Edema, Large for gestational age, Pancreatic islet-cell hyperplasia...	OMIM:267000
Lymphoid Interstitial Pneumonia	Fever, Hepatomegaly, Skin rash, Eczema, Weight loss, Failure to thrive	ORPHA:79128
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Reactive Arthritis	Fever, Pustule, Weight loss, Hyperkeratosis, Joint swelling	ORPHA:29207
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Intrauterine growth retardation, Self-injurious behavior, Cachexia	ORPHA:371364
Oculodentodigital Dysplasia	Palmoplantar keratoderma, Hypoglycemia	ORPHA:2710
Pneumocystosis	Fever, Chronic oral candidiasis, Pleural effusion, Weight loss	ORPHA:723
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Ichthyosis, Hyperkeratosis, Intrauterine growth retardation	ORPHA:1005
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Psoriasiform dermatitis, Fai...	ORPHA:37042
Ablepharon Macrostomia Syndrome	Excessive wrinkled skin, Dry skin, Redundant skin	ORPHA:920
Atopic Keratoconjunctivitis	Dry skin	ORPHA:163934
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Polyhydramnios, Patent ductus arteriosus, Cutis laxa, Hyperextensible skin, Follicular hyperkerat...	OMIM:614557
Noonan Syndrome 1	Failure to thrive in infancy, Lymphedema, Patent ductus arteriosus, Chylothorax, Dry skin	OMIM:163950
Pancreatic Triacylglycerol Lipase Deficiency	Edema, Weight loss, Steatorrhea, Exocrine pancreatic insufficiency	ORPHA:309031
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Insulin resistance, Severe intrauterine growth retardation, Fasting hy...	ORPHA:96182
Idiopathic Bronchiectasis	Fever, Cachexia	ORPHA:60033
Classic Pantothenate Kinase-Associated Neurodegeneration	Attention deficit hyperactivity disorder, Dysphagia, Weight loss	ORPHA:216866
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Hypocalcemia, Cachexia	ORPHA:1438
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Klatskin Tumor	Fever, Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss	ORPHA:99978
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Hypophosphat...	OMIM:229600
Simple Cryoglobulinemia	Viral hepatitis, Weight loss, Acral ulceration, Unexplained fevers, Purpura	ORPHA:91139
Fatal Familial Insomnia	Fever, Dysphagia, Weight loss	OMIM:600072
Diffuse Alveolar Hemorrhage	Fever, Elevated circulating creatinine concentration, Weight loss	ORPHA:90060
Hidrotic Ectodermal Dysplasia, Halal Type	Follicular hyperkeratosis	ORPHA:1809
Wars2-Related Combined Oxidative Phosphorylation Defect	Intrauterine growth retardation, Dysphagia, Neonatal hypoglycemia, Aggressive behavior	ORPHA:572798
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Anorexia, Xerostomia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:615225
Beckwith-Wiedemann Syndrome	Hepatomegaly, Hypoglycemia, Redundant skin, Polyhydramnios, Large for gestational age, Elevated c...	ORPHA:116
Igg4-Related Aortitis	Fever, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:449400
Medullary Thyroid Carcinoma	Weight loss, Dysphagia, Abnormal liver parenchyma morphology	ORPHA:1332
Premature Aging Syndrome, Penttinen Type	Thickened skin, Palmoplantar hyperkeratosis, Corneal stromal edema, Hyperkeratosis, Failure to th...	OMIM:601812
Combined Oxidative Phosphorylation Defect Type 39	Intrauterine growth retardation, Neonatal hypoglycemia	ORPHA:565624
Incontinentia Pigmenti	Skin rash, Erythema, Skin ulcer, Hyperkeratosis, Attention deficit hyperactivity disorder	ORPHA:464
Postinfectious Vasculitis	Fever, Viral hepatitis, Inflammatory abnormality of the skin, Palpable purpura, Abnormal circulat...	ORPHA:48435
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia, Pallor, Weight loss	ORPHA:276621
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia, Polyhydramnios	ORPHA:2774
Immunodeficiency 31C	Fever, Hepatomegaly, Diabetes mellitus, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, ...	OMIM:614162
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hepatic steatosis, Neonatal hypoglycemia	ORPHA:445038
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c	OMIM:616113
Fibromuscular Dysplasia, Multifocal	Striae distensae, Hyperextensible skin, Soft, doughy skin, Soft skin, Dermal translucency	OMIM:619329
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Death in infancy, Small for gestational age, Hypoglycemia, Microvesicular hepatic steatosis, Dysp...	OMIM:220111
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Fever, Weight loss	ORPHA:79127
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Patent ductus arteriosus, Jaundice, Dysphagia, Neonatal death, Failure to thriv...	OMIM:617248
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Splenomegaly, Hydrops fetalis, Weight loss, Hepatosplenomegaly, Hyperbilirubinemia,...	OMIM:613673
Lynch Syndrome	Neoplasm of the pancreas, Death in infancy, Pancreatic adenocarcinoma, Death in early adulthood, ...	ORPHA:144
Limb-Mammary Syndrome	Dry skin, Psoriasiform dermatitis	ORPHA:69085
Bethlem Myopathy	Hyperkeratosis, Elevated circulating creatine kinase concentration	ORPHA:610
8P23.1 Microdeletion Syndrome	Patent ductus arteriosus, Obesity, Weight loss, Attention deficit hyperactivity disorder, Intraut...	ORPHA:251071
Perry Syndrome	Inappropriate behavior, Disinhibition, Weight loss	OMIM:168605
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Hyperkeratosis, Failure to thrive in infancy	OMIM:301220
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypothermia, Decreased serum iron, Patent ductus arteriosus, Dysphagia, Soft skin, Stereotypical ...	ORPHA:438213
Anaplastic Thyroid Carcinoma	Dysphagia, Weight loss	ORPHA:142
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Hermansky-Pudlak Syndrome	Hyperkeratosis, Thickened skin, Anorexia, Weight loss	ORPHA:79430
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Hypoglycemia	OMIM:620224
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia, Hypoglycemia, Neonatal hypoglycemia	OMIM:613986
Naxos Disease	Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:601214
Cerebral Visual Impairment	Attention deficit hyperactivity disorder, Neonatal hypoglycemia	ORPHA:447788
Perry Syndrome	Weight loss	ORPHA:178509
Kabuki Syndrome 2	Intrauterine growth retardation, Neonatal hypoglycemia, Decreased body weight	OMIM:300867
Incontinentia Pigmenti	Hyperkeratosis, Erythema, Maculopapular exanthema, Pallor	OMIM:308300
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss	ORPHA:100080
Costello Syndrome	Redundant neck skin, Hypoglycemia, Polyhydramnios, Acanthosis nigricans, Failure to thrive	OMIM:218040
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia, Steatorrhea	ORPHA:3217
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Anorexia, Thickened skin, Erythema, Xerostomia, Skin ulcer, Weight...	ORPHA:99921
Oromandibular Dystonia	Bruxism, Dysphagia, Weight loss	ORPHA:93958
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Holoprosencephaly	Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Abnormality of the s...	ORPHA:2162
Granulomatosis With Polyangiitis	Fever, Skin rash, Elevated circulating C-reactive protein concentration, Periorbital edema, Skin ...	ORPHA:900
Alzahrani-Kuwahara Syndrome	Self-mutilation, Dry skin, Eczema	OMIM:619268
Imerslund-Gräsbeck Syndrome	Failure to thrive, Pallor, Weight loss	ORPHA:35858
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Pruritus, Palmoplantar keratoderma, Scaling skin, Follicu...	ORPHA:158668
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hypoglycemia	OMIM:616007
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Death in early adulthood, Elevated circulating deoxyuridine concentration, Cachexia, Weight loss,...	OMIM:603041
Pituitary Hormone Deficiency, Combined, 2	Neonatal hypoglycemia, Hypoglycemic seizures	OMIM:262600
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Hyperkeratosis, Recurrent bacterial skin infections, Ichthyosis	OMIM:148210
Riddle Syndrome	Elevated circulating alpha-fetoprotein concentration, Erythema, Weight loss, Scaling skin, Recurr...	ORPHA:420741
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Elevated circulating creatine kinase concentration, Cachexia	ORPHA:1933
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Abnormal circulating creatine concentration,...	ORPHA:440437
Felty Syndrome	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:47612
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss	ORPHA:100082
Polycythemia Vera	Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Pruritus, Weight loss	ORPHA:729
X-Linked Intellectual Disability, Cabezas Type	Hyperactivity, Cachexia, Aggressive behavior, Obesity, Acanthosis nigricans	ORPHA:85293
Hereditary Fructose Intolerance	Hepatomegaly, Reactive hypoglycemia, Jaundice, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, ...	ORPHA:469
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:28378
Thymoma	Fever, Scleroderma, Weight loss	ORPHA:99867
Marfan Syndrome	Cachexia, Attention deficit hyperactivity disorder, Slender build, Striae distensae	ORPHA:558
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Death in infancy, Hypoglycemia, Polyhydramnios, Splenomegaly, Pancreatic islet-cell...	ORPHA:373
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia, Pallor, Weight loss	ORPHA:29072
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Small for gestational age, Hypoglycemia	OMIM:614501
Chronic Beryllium Disease	Weight loss	ORPHA:133
Mycetoma	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis	ORPHA:2583
Glycogen Storage Disease Of Heart, Lethal Congenital	Pericardial effusion, Anasarca, Peripheral edema, Pleural effusion, Ascites, Neonatal hypoglycemi...	OMIM:261740
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss	OMIM:188580
Ablepharon-Macrostomia Syndrome	Premature skin wrinkling, Dry skin, Redundant skin	OMIM:200110
Neuroblastoma, Susceptibility To, 1	Fever, Failure to thrive, Weight loss	OMIM:256700
Tetrasomy 12P	Cachexia	ORPHA:884
Granulomatosis With Polyangiitis	Fever, Skin ulcer, Weight loss	OMIM:608710
Lymphatic Filariasis	Fever, Hyperkeratosis, Predominantly lower limb lymphedema, Lymphedema	ORPHA:2035
Kindler Epidermolysis Bullosa	Recurrent skin infections, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dysphagia	ORPHA:2908
Chand Syndrome	Dry skin	ORPHA:1401
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss	OMIM:613239
Infantile Krabbe Disease	Temperature instability, Failure to thrive, Cachexia, Unexplained fevers	ORPHA:206436
Loeys-Dietz Syndrome 6	Striae distensae	OMIM:619656
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin	ORPHA:79431
Chime Syndrome	Hyperkeratosis, Erythema, Skin ulcer, Ichthyosis	ORPHA:3474
African Trypanosomiasis	Hepatomegaly, Miscarriage, Aggressive behavior, Pruritus, Splenomegaly, Jaundice, Hepatosplenomeg...	ORPHA:3385
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Glutaryl-Coa Dehydrogenase Deficiency	Fasting hypoglycemia, Dysphagia	ORPHA:25
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Cachexia	ORPHA:93941
Restrictive Dermopathy 1	Polyhydramnios, Epidermal hyperkeratosis, Patent ductus arteriosus, Stillbirth, Scaling skin, Neo...	OMIM:275210
Carney Complex	Neoplasm of the pancreas, Increased body weight, Increased circulating cortisol level, Abdominal ...	ORPHA:1359
Pulmonary Alveolar Microlithiasis	Fever, Hepatomegaly, Abnormal circulating calcium concentration, Weight loss, Peripheral edema, I...	ORPHA:60025
Trichorhinophalangeal Syndrome, Type Ii	Redundant skin in infancy, Dry skin, Cutis laxa	OMIM:150230
Immunodeficiency 82 With Systemic Inflammation	Skin rash, Recurrent skin infections, Anorexia, Elevated circulating C-reactive protein concentra...	OMIM:619381
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating cortisol level, Small for gestational age, Hypoglycemia, Hype...	OMIM:201750
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Hyperamm...	OMIM:222700
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis, Dysphagia	OMIM:615510
Castleman Disease	Jaundice, Anasarca, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:160
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia, Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:620305
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Excessive wrinkled skin, Hyperextensible skin, Follicular hyperkeratosis, Palmoplantar cutis laxa...	OMIM:225400
Aortic Aneurysm, Familial Thoracic 10	Striae distensae	OMIM:617168
Familial Thrombocytosis	Pruritus, Splenomegaly, Miscarriage, Weight loss	ORPHA:71493
Choreoacanthocytosis	Hepatomegaly, Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Ele...	ORPHA:2388
Cap Polyposis	Weight loss	ORPHA:160148
Classical Ehlers-Danlos Syndrome	Joint swelling, Blepharochalasis, Hyperextensible skin, Soft, doughy skin, Ecchymosis, Striae dis...	ORPHA:287
Leprosy	Abnormality of the spleen, Penetrating foot ulcers, Hyperkeratosis, Abnormality of the liver, Acr...	ORPHA:548
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese...	ORPHA:79102
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss, Hepatic failure	ORPHA:100075
Loeffler Endocarditis	Weight loss	ORPHA:75566
Autoimmune Pulmonary Alveolar Proteinosis	Fever, Abnormal circulating protein concentration, Weight loss	ORPHA:747
Malignant Atrophic Papulosis	Pleural effusion, Peritonitis, Weight loss	ORPHA:679
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Parakeratosis, Failure to thrive, Superficial dermal perivascular inflammatory infi...	ORPHA:83617
Koolen-De Vries Syndrome Due To A Point Mutation	Small for gestational age, Eczema, Hyperkeratosis, Inappropriate laughter, Attention deficit hype...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Small for gestational age, Eczema, Hyperkeratosis, Inappropriate laughter, Attention deficit hype...	ORPHA:363958
Juvenile Amyotrophic Lateral Sclerosis	Cachexia, Dysphagia	ORPHA:300605
Rett Syndrome	Stereotypical hand wringing, Cachexia, Bruxism	OMIM:312750
Mucolipidosis Type Ii	Splenomegaly, Thickened skin, Weight loss, Hepatosplenomegaly, Oligohydramnios	ORPHA:576
Acquired Central Diabetes Insipidus	Polydipsia, Weight loss	ORPHA:95626
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormality of temperature regulation, Eczema, Erythema, Hyperkeratosis, Ichthyosis, Failure to t...	ORPHA:2273
Liposarcoma	Weight loss	ORPHA:69078
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Hyperpro...	ORPHA:29073
Nocardiosis	Fever, Liver abscess, Anorexia, Peritonitis, Weight loss, Pleural effusion, Cutaneous abscess	ORPHA:31204
Schwartz-Jampel Syndrome	Death in infancy, Elevated circulating creatine kinase concentration, Cachexia, Polyhydramnios, M...	ORPHA:800
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Cutis Laxa, Autosomal Recessive, Type Ia	Oligohydramnios, Redundant skin, Cutis laxa	OMIM:219100
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Joint swelling, Weight loss, Low-grade fever, Hepatosplenomegaly	ORPHA:85408
Hereditary Late-Onset Parkinson Disease	Impulsivity, Agitation, Dysphagia, Weight loss	ORPHA:411602
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Edema, Extrahepatic cholestasis, Weight loss, Hepatic failure	ORPHA:100078
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ...	OMIM:615726
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Mildly elevated creatine kinase, Dysphagia, Weight loss	OMIM:607459
Behçet Disease	Fever, Acne, Anorexia, Splenomegaly, Weight loss, Pleural effusion, Pancreatitis	ORPHA:117
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Weight loss	ORPHA:221098
Sarcoidosis, Susceptibility To, 1	Fever, Hepatomegaly, Anorexia, Pericardial effusion, Splenomegaly, Weight loss, Pleural effusion	OMIM:181000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia, Abnormality of the spleen, Splenomegaly, Skin ulcer, Hepatosplenomegaly, Hyperextensibl...	ORPHA:2072
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Fever, Skin rash, Elevated circulating C-reactive protein concentration, Perianal abscess, Weight...	OMIM:301074
Renal Agenesis, Bilateral	Nonketotic hypoglycemia, Oligohydramnios	ORPHA:1848
Restrictive Dermopathy	Polyhydramnios, Epidermal hyperkeratosis, Patent ductus arteriosus, Scaling skin, Intrauterine gr...	ORPHA:1662
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis, Lymphedema	ORPHA:79280
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Agitation, Small for gestational age, Weight loss	ORPHA:424
Gerstmann-Straussler Disease	Aggressive behavior, Weight loss	OMIM:137440
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Hypokalemia, Pallor, Weight loss	ORPHA:91347
Loeys-Dietz Syndrome 2	Soft skin, Patent ductus arteriosus, Striae distensae, Dermal translucency	OMIM:610168
Marfan Syndrome	Striae distensae	OMIM:154700
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Hypercalcemia, Weight loss, Hypophosphatemia, Dysphagia, Polydipsia, P...	ORPHA:143
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Intrauterine growth retardation, Failure to thrive, Dry skin	ORPHA:99646
Mucoepithelial Dysplasia, Hereditary	Chronic mucocutaneous candidiasis, Follicular hyperkeratosis	OMIM:158310
Tubulointerstitial Nephritis And Uveitis Syndrome	Fever, Skin rash, Anorexia, Elevated circulating C-reactive protein concentration, Elevated circu...	ORPHA:91500
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Elevated circulating C-reactive protein concentration, Retr...	ORPHA:449395
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Dysphagia, Weight loss	ORPHA:1018
Fanconi Anemia	Patent ductus arteriosus, Weight loss, Abnormality of the liver, Intrauterine growth retardation,...	ORPHA:84
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Dysphagia, Polyhydramnios, Weight loss	ORPHA:2020
Meester-Loeys Syndrome	Striae distensae	OMIM:300989
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis	OMIM:620189
Cockayne Syndrome	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cachexia, Splenomegaly, Hyperuric...	ORPHA:191
Trisomy 18	Intrauterine growth retardation, Cachexia, Oligohydramnios	ORPHA:3380
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation, Weight loss	ORPHA:99819
Igg4-Related Dacryoadenitis And Sialadenitis	Fever, Palpebral edema, Retroperitoneal fibrosis, Facial edema, Xerostomia, Weight loss	ORPHA:79078
Warburg-Cinotti Syndrome	Joint swelling, Erythema, Follicular hyperkeratosis	OMIM:618175
6Q Terminal Deletion Syndrome	Hyperkeratosis, Failure to thrive, Obesity	ORPHA:75857
Pyomyositis	Fever, Recurrent cutaneous abscess formation, Weight loss	ORPHA:764
Pancreatoblastoma	Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Weight loss	ORPHA:677
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Slender build, Neonatal hypoglycemia, Large for gestational age	ORPHA:457359
Loeys-Dietz Syndrome	Patent ductus arteriosus, Striae distensae	ORPHA:60030
Carney-Stratakis Syndrome	Dysphagia, Weight loss	ORPHA:97286
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Impulsivity, Aggressive behavior, Thickened skin, Epidermal thickening, Orthokeratotic hyperkerat...	ORPHA:73223
Oculopharyngodistal Myopathy 1	Elevated circulating creatine kinase concentration, Dysphagia, Weight loss	OMIM:164310
Loeys-Dietz Syndrome 3	Soft skin, Patent ductus arteriosus, Striae distensae, Dermal translucency	OMIM:613795
Aneurysm-Osteoarthritis Syndrome	Patent ductus arteriosus, Striae distensae	ORPHA:284984
Kyphoscoliotic Ehlers-Danlos Syndrome	Soft, doughy skin, Hyperextensible skin, Follicular hyperkeratosis	ORPHA:536545
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Ramon Syndrome	Hyperkeratosis, Decreased body weight	OMIM:266270
De Sanctis-Cacchione Syndrome	Parakeratosis	OMIM:278800
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hyperkeratosis, Xerostomia	OMIM:604292
Tropical Endomyocardial Fibrosis	Fever, Hepatomegaly, Cachexia, Splenomegaly, Pedal edema, Peripheral edema, Hypoalbuminemia, Ascites	ORPHA:75565
Goodpasture Syndrome	Fever, Increased blood urea nitrogen, Pallor, Weight loss	OMIM:233450
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hyperkeratosis, Xerostomia	OMIM:129900
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
Cowden Syndrome	Failure to thrive, Palmoplantar keratoderma, Generalized hyperkeratosis	ORPHA:201
Malt Lymphoma	Fever, Weight loss	ORPHA:52417
Proteus Syndrome	Cachexia, Lymphedema, Splenomegaly, Thickened skin, Generalized hyperkeratosis	ORPHA:744
Camurati-Engelmann Disease	Hepatomegaly, Cachexia, Anorexia, Splenomegaly, Slender build	ORPHA:1328
Seckel Syndrome	Intrauterine growth retardation, Cachexia	ORPHA:808
Sotos Syndrome	Hypercalcemia, Aggressive behavior, Patent ductus arteriosus, Pedal edema, Attention deficit hype...	ORPHA:821
Juvenile Polyposis Of Infancy	Patent ductus arteriosus, Hypoalbuminemia, Cachexia	ORPHA:79076
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia, Anorexia	ORPHA:1969
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Beckwith-Wiedemann Syndrome	Hepatoblastoma, Hepatomegaly, Pancreatic hyperplasia, Neonatal hypoglycemia	OMIM:130650
Nijmegen Breakage Syndrome	Attention deficit hyperactivity disorder, Cachexia	ORPHA:647
Non-Acquired Panhypopituitarism	Hypoglycemia	ORPHA:90695
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypoglycemia	ORPHA:95494
Norrie Disease	Diabetes mellitus, Cachexia, Self-injurious behavior, Attention deficit hyperactivity disorder, F...	ORPHA:649
Holoprosencephaly 1	Hypoglycemia	OMIM:236100
Stickler Syndrome	Slender build, Cachexia	ORPHA:828

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dgat2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dgat2.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Lipid Droplets in Brown Adipose Tissue Are Dispensable for Cold-Induced Thermogenesis.	Cell reports (November 2020)	Dgat2^{tm1c(EUCOMM)Hmgu}	PMC7696656
Hepatocyte Deletion of Triglyceride-Synthesis Enzyme Acyl CoA: Diacylglycerol Acyltransferase 2 Reduces Steatosis Without Increasing Inflammation or Fibrosis in Mice.	Hepatology (Baltimore, Md.) (June 2019)	Dgat2^{tm1c(EUCOMM)Hmgu}	PMC6893913

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Dgat2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Dgat2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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